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Echinobase
Summary Literature (0)
DOID:0110723 - neuronal ceroid lipofuscinosis 8

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.

Synonyms: CLN8,

Echinobase Genes :


OMIM:
MIM:600143 - ceroid lipofuscinosis, neuronal, 8; cln8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neuronal ceroid lipofuscinosis (is_a)